Hypermobility of Joints PDF
Preview Hypermobility of Joints
Hypermobility of Joints Peter Beighton (cid:129) Rodney Grahame Howard Bird Hypermobility of Joints Fourth Edition Peter Beighton, OMB, MD, PhD Rodney Grahame, CBE, MD, FRCP, FACP FRCP, FRSSA Department of Rheumatolgy Department of Human Genetics University College Hospital University of Cape Town London Cape Town United Kingdom South Africa Howard Bird, MA, MD, FRCP Department of Musculo-Skeletal Medicine University of Leeds Leeds United Kingdom ISBN 978-1-84882-084-5 4th Edition e-ISBN 978-1-84882-085-2 ISBN 978-1-85233-142-9 3rd Edition ISBN 978-3-540-19564-1 2nd Edition ISBN 978-3-540-12113-8 1st Edition DOI 10.1007/978-1-84882-085-2 Springer London Dordrecht Heidelberg New York British Library Cataloguing in Publication Data A catalogue record for this book is available from the British Library Library of Congress Control Number: 2011939069 © Springer-Verlag London Limited 2012 First published 1983 Second edition 1989 Third edition 1999 Fourth edition 2012 Whilst we have made considerable efforts to contact all holders of copyright material contained in this book, we may have failed to locate some of them. Should holders wish to contact the Publisher, we will be happy to come to some arrangement with them. Apart from any fair dealing for the purposes of research or private study, or criticism or review, as permitted under the Copyright, Designs and Patents Act 1988, this publication may only be repro- duced, stored or transmitted, in any form or by any means, with the prior permission in writing of the publishers, or in the case of reprographic reproduction in accordance with the terms of licenses issued by the Copyright Licensing Agency. Enquiries concerning reproduction outside those terms should be sent to the publishers. The use of registered names, trademarks, etc., in this publication does not imply, even in the absence of a specifi c statement, that such names are exempt from the relevant laws and regulations and there- fore free for general use. Product liability: The publisher can give no guarantee for information about drug dosage and applica- tion thereof contained in this book. In every individual case the respective user must check its accuracy by consulting other pharmaceutical literature. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com) Foreword to the Fourth Edition It is an honour and a pleasure to introduce the fourth edition of this remarkable book on joint hypermobility to the clinical and scientifi c community. The authors of this book, Peter Beighton, Rodney Graham and Howard Bird are distinguished physicians with a long and solid professional expertise in the clinical and genetic aspects of articular hypermobility. Thanks to this landmark book, the fi rst edition of which dates from 1983, the ‘joint hypermobility syndrome’ became gradually recognized as an important and heterogeneous clinical entity that may bear signifi cant impact on the physical and psychosocial well-being of affected indi- viduals and their families. A major strength of this work is the comprehensive approach of the subject, whereby the authors address all medical aspects of the ‘joint hypermobility syndrome’, the clini- cal term that refers to the symptomatic status of articular hypermobility. Based on their vast clinical experience and wisdom, they systematically review the diagnostic chal- lenges and management issues and illustrate the important contribution of joint hyper- mobility to the pathogenesis of rheumatological and orthopaedic manifestations. In addition, this fourth edition elaborates more extensively on the extra-articular manifes- tations such as autonomic dysfunction, proprioceptive impairment and chronic pain which may signifi cantly increase the morbidity of hypermobility conditions. Not less importantly, the authors highlight the socio-economic and psychologi- cal burden that is associated with the chronic pain and physical disabilities that may arise as consequences of the joint hypermobility syndromes, and draw attention to the multidisciplinary approach of medical management that should include a combi- nation of medical, technical, physiotherapeutic strategies and – where necessary – behavioural techniques such as cognitive behavioural therapy. In addition to addressing the diagnostic, nosological and management issues, the authors also respond to the rapidly evolving scientifi c knowledge on the genetic and molecular basis of joint hypermobility, by including appropriate updates of the chapters on molecular collagen biology and on the expanding list of known herita- ble disorders in which joint hypermobility is a major clinical manifestation, such as the Ehlers–Danlos syndrome. v vi Foreword to the Fourth Edition Last but not least, the fi nal chapter opens a window to future avenues for research by formulating some speculative but challenging topics for further study that will certainly keep the next generation of clinicians and scientists busy not only in trying to resolve unanswered research questions but also in translating their fi ndings to effective therapies for the patients. And, although the authors claim that this is the last edition from their own hand, it is obvious that the hypermobility syndromes will remain a fascinating clinical and scientifi c fi eld for many decades to come. A. De Paepe, M.D., Ph.D. Professor of Human and Medical Genetics Centre for Medical Genetics, Ghent University Ghent, Belgium Preface It is now 28 years since the publication of the fi rst edition of this book in 1983, and updated second and third editions appeared in 1989 and 1999 respectively. It seemed appropriate to once again re-visit this expanding and fascinating area, as urged by the late Professor Eric Bywaters in his foreword to the third edition. We are most grateful to Professor Anne de Paepe for gracing this fourth edition with a new foreword. The format is similar to that of previous monographs with the chapters on assess- ment, biomechanics and hypermobility in the performing arts and sports all updated. The introduction, the chapters on the molecular basis of hypermobility, illustrative case histories and the heritable hypermobility syndromes have been completely re-written. The clinical chapters have also been re-written, with specifi c division between articular and extra-articular features. With the expectation that this edition will be the last from our own pens, the innovative Chap. 10 speculates on future avenues for research that might provoke ideas and provide content for a future edi- tion, probably with different editors, a decade hence. The last 10 years have seen signifi cant advances in nosology of heritable hyper- mobility syndromes and, in particular, in our understanding of the molecular basis of these conditions. The latter informs on the possible pathogenesis of more hetero- geneous hypermobility syndromes in the context of our increasing realisation that joints act as a surrogate for clinical features associated with joint hypermobility in other parts of the body. Translational research in the fi eld of hypermobility may lead to real advances in this interesting group of conditions, perhaps paving the way for medical manage- ment through manipulation of cytokines connected with growth and eventually even with genetic engineering. Peter Beighton Rodney Grahame Howard Bird vii Acknowledgements The authors would like to thank the following for their contribution: Karl Ernest Kadler, B.Sc. (Hons), Ph.D. and Gillian Anne Wallis, B.Sc. (Hons), M.A., Ph.D. Faculty of Medicine and Human Sciences and Faculty of Life Sciences University of Manchester Michael Smith Building Manchester M13 9PT, United Kingdom ix
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